Literature DB >> 19340010

Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications.

Laura Huilaja, Tiina Hurskainen, Helena Autio-Harmainen, Raija Sormunen, Hongmin Tu, Silke C Hofmann, Taina Pihlajaniemi, Leena Bruckner-Tuderman, Kaisa Tasanen.   

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Year:  2009        PMID： 19340010     DOI： 10.1038/jid.2009.22

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  1 in total

1.  The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

Authors:  Cristina Has; Dimitra Kiritsi; Jemima E Mellerio; Claus-Werner Franzke; Emma Wedgeworth; Iliana Tantcheva-Poor; Kristin Kernland-Lang; Peter Itin; Michael A Simpson; Patricia J Dopping-Hepenstal; Wataru Fujimoto; John A McGrath; Leena Bruckner-Tuderman
Journal:  J Invest Dermatol       Date:  2013-09-04       Impact factor: 8.551
  1 in total

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